Complex Neurological Phenotype Associated with a De Novo...

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Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder

Piccolo, Gianluca, Amadori, Elisabetta, Vari, Maria Stella, Marchese, Francesca, Riva, Antonella, Ghirotto, Valentina, Iacomino, Michele, Salpietro, Vincenzo, Zara, Federico, Striano, Pasquale
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Journal:
Journal of Pediatric Genetics
DOI:
10.1055/s-0040-1713159
Date:
July, 2020
File:
PDF, 2.13 MB
2020
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